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Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism
The thyroglobulin (TG) gene encodes a protein required for thyroid hormone synthesis and iodine storage. Deleterious TG mutations produce congenital hypothyroidism (CH) often presenting with undetectable serum TG. Alu elements, common throughout the human genome, have a poly(dA) region in the 3′ end...
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| 出版年: | Thyroid |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Mary Ann Liebert, Inc., publishers
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7232585/ https://ncbi.nlm.nih.gov/pubmed/31868128 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2019.0636 |
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